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    Nbeal2 neurobeachin-like 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 316014, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Nbeal2provided by RGD
    Official Full Name
    neurobeachin-like 2provided by RGD
    Primary source
    RGD:1306501
    See related
    EnsemblRapid:ENSRNOG00000027880 AllianceGenome:RGD:1306501
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Nbeal2-ps1; RGD1306501
    Summary
    Predicted to enable protein kinase binding activity. Predicted to be involved in platelet formation and protein localization. Predicted to act upstream of or within blood coagulation; megakaryocyte development; and platelet alpha granule organization. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and membrane. Human ortholog(s) of this gene implicated in gray platelet syndrome. Orthologous to human NBEAL2 (neurobeachin like 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 73.1), Spleen (RPKM 64.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Nbeal2 in Genome Data Viewer
    Location:
    8q32
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (119481608..119511997, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (110603220..110633612, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (118893987..118924390, complement)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene SET domain containing 2, histone lysine methyltransferase Neighboring gene uncharacterized LOC108351781 Neighboring gene neurotrophin receptor associated death domain Neighboring gene coiled-coil domain containing 12 Neighboring gene parathyroid hormone 1 receptor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice. Guerrero JA, et al. Blood, 2014 Dec 4. PMID 25258341
    2. Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice. Deppermann C, et al. J Clin Invest, 2013 Jul 1. PMID 23863626, Free PMC Article
    3. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Gunay-Aygun M, et al. Nat Genet, 2011 Jul 17. PMID 21765412, Free PMC Article
    4. Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice. Kahr WH, et al. Blood, 2013 Nov 7. PMID 23861251, Free PMC Article
    5. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Albers CA, et al. Nat Genet, 2011 Jul 17. PMID 21765411, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within blood coagulation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within megakaryocyte development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within platelet alpha granule organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in platelet formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within wound healing ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    neurobeachin-like protein 2
    Names
    neurobeachin-like 2, pseudogene 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001427320.1 → NP_001414249.1  neurobeachin-like protein 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A0A8I6A0G8
      Related
      ENSRNOP00000085586.2, ENSRNOT00000112929.2

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      119481608..119511997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039082645.2 → XP_038938573.1  neurobeachin-like protein 2 isoform X5

      Conserved Domains (6) summary
      smart01026
      Location:2011 → 2291
      Beach; Beige/BEACH domain
      cd01201
      Location:1889 → 1989
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      sd00039
      Location:2409 → 2446
      7WD40; WD40 repeat [structural motif]
      pfam15787
      Location:851 → 1100
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1566 → 1832
      DUF4800; Domain of unknown function (DUF4800)
      cl29593
      Location:2410 → 2659
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_003750591.6 → XP_003750639.1  neurobeachin-like protein 2 isoform X3

      See identical proteins and their annotated locations for XP_003750639.1

      UniProtKB/TrEMBL
      A0A8I6A5B7
      Related
      ENSRNOP00000105470.1, ENSRNOT00000151444.1
      Conserved Domains (7) summary
      COG2319
      Location:2434 → 2684
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:1889 → 2014
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:2037 → 2316
      Beach; Beige/BEACH domain
      pfam15787
      Location:851 → 1100
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1566 → 1832
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:2434 → 2471
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2435 → 2684
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. XM_006244009.5 → XP_006244071.1  neurobeachin-like protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006244071.1

      UniProtKB/TrEMBL
      D4A1L2
      Related
      ENSRNOP00000052978.6, ENSRNOT00000056130.7
      Conserved Domains (7) summary
      COG2319
      Location:2436 → 2686
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:1916 → 2016
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:2039 → 2318
      Beach; Beige/BEACH domain
      pfam15787
      Location:878 → 1127
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1593 → 1859
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:2436 → 2473
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2437 → 2686
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_006244008.5 → XP_006244070.1  neurobeachin-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006244070.1

      Related
      ENSRNOP00000099901.1, ENSRNOT00000140877.1
      Conserved Domains (7) summary
      COG2319
      Location:2454 → 2704
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:1909 → 2034
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam02138
      Location:2057 → 2336
      Beach; Beige/BEACH domain
      pfam15787
      Location:871 → 1120
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1586 → 1852
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:2454 → 2491
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2455 → 2704
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_039082643.2 → XP_038938571.1  neurobeachin-like protein 2 isoform X4

      Conserved Domains (6) summary
      smart01026
      Location:2029 → 2309
      Beach; Beige/BEACH domain
      cd01201
      Location:1882 → 2007
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      sd00039
      Location:2427 → 2464
      7WD40; WD40 repeat [structural motif]
      pfam15787
      Location:844 → 1093
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:1559 → 1825
      DUF4800; Domain of unknown function (DUF4800)
      cl29593
      Location:2428 → 2677
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    Nucleotide Protein Strain
    Heading Accession and Version

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